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Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene

Overview of attention for article published in Frontiers in Pediatrics, June 2017
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Title
Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene
Published in
Frontiers in Pediatrics, June 2017
DOI 10.3389/fped.2017.00128
Pubmed ID
Authors

Gianluigi Laccetta, Maria Tutera, Mario Miccoli, Rita Consolini

Abstract

Mevalonate kinase deficiency impairs several aspects of the patient's quality of life, thus early diagnosis and treatment are required to improve health-related quality of life (HRQOL). A 15-year-old patient with double heterozygosity for the mutations 1129G>A and 928G>A in MVK gene, heterozygosity for the mutation 2107C>A in CIAS1 gene and hyper-IgD syndrome phenotype, has been treated with anakinra with a reduction of 50% in the number of fever episodes per month, a reduction of 33% in the days of fever for each attack and normal blood tests in the intercritical phase. The RAND 36-Item Health Survey has been used for the assessment of HRQOL before and after the treatment with anakinra. The patient's quality of life showed an overall improvement of 27%; results showed a better improvement in role limitations due to physical health (50%).

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The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 27%
Student > Bachelor 1 9%
Student > Ph. D. Student 1 9%
Student > Master 1 9%
Professor > Associate Professor 1 9%
Other 0 0%
Unknown 4 36%
Readers by discipline Count As %
Medicine and Dentistry 3 27%
Pharmacology, Toxicology and Pharmaceutical Science 1 9%
Social Sciences 1 9%
Immunology and Microbiology 1 9%
Unknown 5 45%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 June 2017.
All research outputs
#18,554,389
of 22,979,862 outputs
Outputs from Frontiers in Pediatrics
#3,392
of 6,037 outputs
Outputs of similar age
#242,005
of 317,348 outputs
Outputs of similar age from Frontiers in Pediatrics
#55
of 74 outputs
Altmetric has tracked 22,979,862 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,037 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.6. This one is in the 30th percentile – i.e., 30% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 317,348 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 74 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.